A mutant PSEN1 causes dementia with Lewy bodies and variant Alzheimer's disease

被引：72

作者：

Ishikawa, A

Piao, YS

Miyashita, A

Kuwano, R

Onodera, O

Ohtake, H

Suzuki, M

Nishizawa, M

Takahashi, H

机构：

[1] Agano Hosp, Brain Dis Ctr, Dept Neurol, Agano 9592221, Japan

[2] Nishi Ojiya Natl Hosp, Dept Neurol, Ojiya, Japan

[3] Niigata Univ, Dept Pathol, Niigata, Japan

[4] Niigata Univ, Genome Sci Branch, Ctr Bioresource Based Res, Niigata, Japan

[5] Niigata Univ, Dept Mol Neurosci, Resource Branch Brain Dis, Niigata, Japan

[6] Niigata Univ, Dept Neurol, Brain Res Inst, Niigata, Japan

[7] Nagaoka Red Cross Hosp, Nagaoka, Niigata, Japan

来源：

ANNALS OF NEUROLOGY | 2005年 / 57卷 / 03期

关键词：

D O I：

10.1002/ana.20393

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

We report early-onset parkinsonism and dementia of 18 years' duration in a 52-year-old man whose grandfather and father had suffered from a similar neurological disease. In this patient, we found neuronal loss in various brain regions including the substantia nigra and cerebral cortex, Lewy bodies, cotton wool plaques, corticospinal tract degeneration, cerebral amyloid angiopathy, and a novel three-base pair deletion in exon 12 of the presenilin-1 (PSEN1) gene. We considered that the mutant PSEN1 might play an important role in the pathogenetic process of both aggregation of a-synuclein into Lewy bodies and deposition of beta-amyloid into cotton wool plaques.

引用

页码：429 / 434

页数：6

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